PMID- 28430123
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20191120
IS  - 2073-4425 (Print)
IS  - 2073-4425 (Electronic)
IS  - 2073-4425 (Linking)
VI  - 8
IP  - 4
DP  - 2017 Apr 21
TI  - Functional Analysis of the rs774872314, rs116171003, rs200231898 and rs201107751 
      Polymorphisms in the Human RORgammaT Gene Promoter Region.
LID - 10.3390/genes8040126 [doi]
LID - 126
AB  - RAR-related orphan receptor gamma RORgammaT, a tissue-specific isoform of the RORC 
      gene, plays a critical role in the development of naive CD4+ cells into fully 
      differentiated Th17 lymphocytes. Th17 lymphocytes are part of the host defense 
      against numerous pathogens and are also involved in the pathogenesis of 
      inflammatory diseases, including autoimmune disorders. In this study, we 
      functionally examined four naturally occurring polymorphisms located within one 
      of the previously identified GC-boxes in the promoter region of the gene. The 
      single nucleotide polymorphisms (SNPs) rs774872314, rs116171003 and rs201107751 
      negatively influenced the activity of the RORgammaT promoter in a gene reporter 
      system and eliminated or reduced Sp1 and Sp2 transcription factor binding, as 
      evidenced by the electrophoretic mobility shift assay (EMSA) technique. 
      Furthermore, we investigated the frequency of these SNPs in the Polish population 
      and observed the presence of rs116171003 at a frequency of 3.42%. Thus, our 
      results suggest that polymorphisms within the RORgammaT promoter occurring at 
      significant rates in populations affect promoter activity. This might have 
      phenotypic effects in immune systems, which is potentially significant for 
      implicating pathogenetic mechanisms under certain pathological conditions, such 
      as autoimmune diseases and/or primary immunodeficiencies (e.g., immunoglobulin E 
      (IgE) syndrome).
FAU - Ratajewski, Marcin
AU  - Ratajewski M
AD  - Laboratory of TranscriptionalRegulation, Institute of MedicalBiology, 
      PolishAcademy of Sciences, 93-232 Lodz, Poland. mratajewski@cbm.pan.pl.
FAU - Slomka, Marcin
AU  - Slomka M
AD  - BiobankLab, Department of MolecularBiophysics, Faculty of Biology and 
      Environmental Protection, University of Lodz, 90-237 Lodz, Poland. 
      m.slomka@biol.uni.lodz.pl.
FAU - Karas, Kaja
AU  - Karas K
AD  - Laboratory of TranscriptionalRegulation, Institute of MedicalBiology, 
      PolishAcademy of Sciences, 93-232 Lodz, Poland. kaja.karas@gmail.com.
FAU - Sobalska-Kwapis, Marta
AU  - Sobalska-Kwapis M
AD  - BiobankLab, Department of MolecularBiophysics, Faculty of Biology and 
      Environmental Protection, University of Lodz, 90-237 Lodz, Poland. 
      sobalska@biol.uni.lodz.pl.
FAU - Korycka-Machala, Malgorzata
AU  - Korycka-Machala M
AD  - MycobacteriumGenetics and Physiology Unit, Institute of MedicalBiology, 
      PolishAcademy of Sciences, 93-232 Lodz, Poland. mkorycka@cbm.pan.pl.
FAU - Salkowska, Anna
AU  - Salkowska A
AD  - Laboratory of TranscriptionalRegulation, Institute of MedicalBiology, 
      PolishAcademy of Sciences, 93-232 Lodz, Poland. annaswiderek1@wp.pl.
FAU - Dziadek, Jaroslaw
AU  - Dziadek J
AD  - MycobacteriumGenetics and Physiology Unit, Institute of MedicalBiology, 
      PolishAcademy of Sciences, 93-232 Lodz, Poland. jdziadek@cbm.pan.pl.
FAU - Strapagiel, Dominik
AU  - Strapagiel D
AD  - BiobankLab, Department of MolecularBiophysics, Faculty of Biology and 
      Environmental Protection, University of Lodz, 90-237 Lodz, Poland. 
      dominik.strapagiel@biol.uni.lodz.pl.
FAU - Dastych, Jaroslaw
AU  - Dastych J
AD  - Laboratory of Cellular Immunology, Institute of MedicalBiology, PolishAcademy of 
      Sciences, 93-232 Lodz, Poland. jdastych@cbm.pan.pl.
LA  - eng
PT  - Journal Article
DEP - 20170421
PL  - Switzerland
TA  - Genes (Basel)
JT  - Genes
JID - 101551097
PMC - PMC5406873
OTO - NOTNLM
OT  - RORC
OT  - RORgammaT
OT  - Th17
OT  - polymorphism
OT  - promoter
COIS- The authors declare no conflict of interest.
EDAT- 2017/04/22 06:00
MHDA- 2017/04/22 06:01
PMCR- 2017/04/01
CRDT- 2017/04/22 06:00
PHST- 2017/03/20 00:00 [received]
PHST- 2017/04/12 00:00 [revised]
PHST- 2017/04/13 00:00 [accepted]
PHST- 2017/04/22 06:00 [entrez]
PHST- 2017/04/22 06:00 [pubmed]
PHST- 2017/04/22 06:01 [medline]
PHST- 2017/04/01 00:00 [pmc-release]
AID - genes8040126 [pii]
AID - genes-08-00126 [pii]
AID - 10.3390/genes8040126 [doi]
PST - epublish
SO  - Genes (Basel). 2017 Apr 21;8(4):126. doi: 10.3390/genes8040126.